Apert syndrome

Also known as: Acrocephalosyndactyly type I

Craniosynostosis with severe syndactyly of hands and feet.

Medical specialty: Pediatrics
Subspecialty: Pediatrics / Pediatric neurosurgery
Sex & age distribution: Male: affected; Female: affected, equal; Children: yes, congenital
Gene(s) involved: FGFR2

Etiology & mechanism

Gain-of-function FGFR2 mutations.

Gene(s) involved (1)

FGFR2

Symptoms & signs (6)

cleft palatecraniosynostosisintellectual disabilitymidface hypoplasiaproptosissyndactyly

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.